Varaico: Literature-Extracted Genetic Variants

Gene:ACAP1
Variant:p.R533W
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ACAP1

NM_014716.4:p.R533W

Associated Papers

Tumor evolution and immune microenvironment dynamics in primary and relapsed mantle cell lymphoma.

Wan H et al.

Cell Reports. Medicine, 2025

40876452 (PubMed )
Supplement: mmc2.xlsx › TableS3._Nonsilent_mutations

Genetic Investigation and Transcriptome Profiling in a Nuclear Family With Peutz-Jeghers Syndrome.

Khan TN et al.

Human Mutation, 2025

40860288 (PubMed )
Supplement: 5530710.f1.zip › Khan_et_al__Supplementary_Table_3_R3_ES.pdf

Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis.

Bisikirska B et al.

Science Translational Medicine, 2024

39413162 (PubMed )
Supplement: scitranslmed.adj0085_data_files_s1_to_s10.zip › adj0085_data_file_s1.xlsx › Sheet1

Multi-Omics Characterization of the Spontaneous Mesenchymal-Epithelial Transition in the PMC42 Breast Cancer Cell Lines.

Bhatia S et al.

Journal of Clinical Medicine, 2019

31430931 (PubMed )
Supplement: jcm-08-01253-s001.zip › Supplementary_Info › Suppl_Tables.xlsx › S5.ET_SNP_deleterious
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."